Carbon-13 and silicon-29 NMR investigations of glass-filled polymer composites von Weeding, T. L, Veeman, W. S, Jenneskens, L. W, Gaur, H. Angad, Schuurs, H. E. C, Huysmans, W. G. B

Volltext

Carbon-13 solid-state NMR study of the interfacial region in glass-filled polyamide 6 composites von Huijgen, T. P, Gaur, H. Angad, Weeding, T. L, Jenneskens, L. W, Schuurs, H. E. C, Huysmans, W. G. B, Veeman, W. S

Volltext

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP von Helsmoortel, Céline, Vulto-van Silfhout, Anneke T, Coe, Bradley P, Vandeweyer, Geert, Rooms, Liesbeth, van den Ende, Jenneke, Schuurs-Hoeijmakers, Janneke H M, Marcelis, Carlo L, Willemsen, Marjolein H, Vissers, Lisenka E L M, Yntema, Helger G, Bakshi, Madhura, Wilson, Meredith, Witherspoon, Kali T, Malmgren, Helena, Nordgren, Ann, Annerén, Göran, Fichera, Marco, Bosco, Paolo, Romano, Corrado, de Vries, Bert B A, Kleefstra, Tjitske, Kooy, R Frank, Eichler, Evan E, Van der Aa, Nathalie

Volltext

13C and 29Si NMR investigations of glass-filled polymer composites von WEEDING, T. L, VEEMAN, W. S, JENNESKENS, L. W, GAUR, H. A, SCHUURS, H. E. C, HUYSMANS, W. G. B

Volltext

13C solid-state NMR study of the interfacial region in glass-filled polyamide-6 composites von HUIJGEN, T. P, ANGAD GAUR, H, WEEDING, T. L, JENNESKENS, L. W, SCHUURS, H. E. C, HUYSMANS, W. G. B, VEEMAN, W. S

Volltext

Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development von Bernier, Raphael, Golzio, Christelle, Xiong, Bo, Stessman, Holly A., Coe, Bradley P., Penn, Osnat, Witherspoon, Kali, Gerdts, Jennifer, Baker, Carl, Vulto-van Silfhout, Anneke T., Schuurs-Hoeijmakers, Janneke H., Fichera, Marco, Bosco, Paolo, Buono, Serafino, Alberti, Antonino, Failla, Pinella, Peeters, Hilde, Steyaert, Jean, Vissers, Lisenka E.L.M., Francescatto, Ludmila, Mefford, Heather C., Rosenfeld, Jill A., Bakken, Trygve, O’Roak, Brian J., Pawlus, Matthew, Moon, Randall, Shendure, Jay, Amaral, David G., Lein, Ed, Rankin, Julia, Romano, Corrado, de Vries, Bert B.A., Katsanis, Nicholas, Eichler, Evan E.

Volltext

A rapid determination of brass composition and plating weight on brass-plated steel wire and cord by X-ray fluorescence spectrometry von van Lingen, R.L.M., Schuurs, H.E.C., Veenstra, G.J., Roes, J.M.B., Loef, E.C.J.

Volltext

Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome von Schuurs-Hoeijmakers, Janneke H.M., Oh, Edwin C., Vissers, Lisenka E.L.M., Swinkels, Mariëlle E.M., Gilissen, Christian, Willemsen, Michèl A., Holvoet, Maureen, Steehouwer, Marloes, Veltman, Joris A., de Vries, Bert B.A., van Bokhoven, Hans, de Brouwer, Arjan P.M., Katsanis, Nicholas, Devriendt, Koenraad, Brunner, Han G.

Volltext

TRIO loss of function is associated with mild intellectual disability and affects dendritic branching and synapse function von Ba, Wei, Yan, Yan, Reijnders, Margot R F, Schuurs-Hoeijmakers, Janneke H M, Feenstra, Ilse, Bongers, Ernie M H F, Bosch, Daniëlle G M, De Leeuw, Nicole, Pfundt, Rolph, Gilissen, Christian, De Vries, Petra F, Veltman, Joris A, Hoischen, Alexander, Mefford, Heather C, Eichler, Evan E, Vissers, Lisenka E L M, Nadif Kasri, Nael, De Vries, Bert B A

Volltext

Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders von van der Donk, Roos, Jansen, Sandra, Schuurs-Hoeijmakers, Janneke H. M., Koolen, David A., Goltstein, Lia C. M. J., Hoischen, Alexander, Brunner, Han G., Kemmeren, Patrick, Nellåker, Christoffer, Vissers, Lisenka E. L. M., de Vries, Bert B. A., Hehir-Kwa, Jayne Y.

Volltext

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome von Arts, Heleen H, Bongers, Ernie M H F, Mans, Dorus A, van Beersum, Sylvia E C, Oud, Machteld M, Bolat, Emine, Spruijt, Liesbeth, Cornelissen, Elisabeth A M, Schuurs-Hoeijmakers, Janneke H M, de Leeuw, Nicole, Cormier-Daire, Valérie, Brunner, Han G, Knoers, Nine V A M, Roepman, Ronald

Volltext

Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency von Veldman, Bram C. F., Kuper, Willemijn F. E., Lilien, Marc, Schuurs‐Hoeijmakers, Janneke H. M., Marcelis, Carlo, Phan, Milan, Hettinga, Ymkje, Talsma, Herman E., Hasselt, Peter M., Haijes, Hanneke A.

Volltext

De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review von van den Akker, W.M.R., Brummelman, I., Martis, L.M., Timmermans, R.N., Pfundt, R., Kleefstra, T., Willemsen, M.H., Gerkes, E.H., Herkert, J.C., van Essen, A.J., Rump, P., Vansenne, F., Terhal, P.A., van Haelst, M.M., Cristian, I., Turner, C.E., Cho, M.T., Begtrup, A., Willaert, R., Fassi, E., van Gassen, K.L.I., Stegmann, A.P.A., de Vries, B.B.A., Schuurs‐Hoeijmakers, J.H.M.

Volltext

Molecular mechanisms of adhesion promotion by silane coupling agents in glass bead-reinforced polyamide-6 model composites von Jenneskens, L.W., Schuurs, H.E.C., Simons, D.-J., Willems, L.

Volltext

Refining analyses of copy number variation identifies specific genes associated with developmental delay von Coe, Bradley P, Witherspoon, Kali, Rosenfeld, Jill A, van Bon, Bregje W M, Vulto-van Silfhout, Anneke T, Bosco, Paolo, Friend, Kathryn L, Baker, Carl, Buono, Serafino, Vissers, Lisenka E L M, Schuurs-Hoeijmakers, Janneke H, Hoischen, Alex, Pfundt, Rolph, Krumm, Nik, Carvill, Gemma L, Li, Deana, Amaral, David, Brown, Natasha, Lockhart, Paul J, Scheffer, Ingrid E, Alberti, Antonino, Shaw, Marie, Pettinato, Rosa, Tervo, Raymond, de Leeuw, Nicole, Reijnders, Margot R F, Torchia, Beth S, Peeters, Hilde, Thompson, Elizabeth, O'Roak, Brian J, Fichera, Marco, Hehir-Kwa, Jayne Y, Shendure, Jay, Mefford, Heather C, Haan, Eric, Gécz, Jozef, de Vries, Bert B A, Romano, Corrado, Eichler, Evan E

Volltext

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness von Wortmann, Saskia B, Vaz, Frédéric M, Gardeitchik, Thatjana, Vissers, Lisenka E L M, Renkema, G Herma, Schuurs-Hoeijmakers, Janneke H M, Kulik, Wim, Lammens, Martin, Christin, Christin, Kluijtmans, Leo A J, Rodenburg, Richard J, Nijtmans, Leo G J, Grünewald, Anne, Klein, Christine, Gerhold, Joachim M, Kozicz, Tamas, van Hasselt, Peter M, Harakalova, Magdalena, Kloosterman, Wigard, Barić, Ivo, Pronicka, Ewa, Ucar, Sema Kalkan, Naess, Karin, Singhal, Kapil K, Krumina, Zita, Gilissen, Christian, van Bokhoven, Hans, Veltman, Joris A, Smeitink, Jan A M, Lefeber, Dirk J, Spelbrink, Johannes N, Wevers, Ron A, Morava, Eva, de Brouwer, Arjan P M

Volltext

Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia von Schuurs-Hoeijmakers, Janneke H.M., Geraghty, Michael T., Kamsteeg, Erik-Jan, Ben-Salem, Salma, de Bot, Susanne T., Nijhof, Bonnie, van de Vondervoort, Ilse I.G.M., van der Graaf, Marinette, Nobau, Anna Castells, Otte-Höller, Irene, Vermeer, Sascha, Smith, Amanda C., Humphreys, Peter, Schwartzentruber, Jeremy, Ali, Bassam R., Al-Yahyaee, Saeed A., Tariq, Said, Pramathan, Thachillath, Bayoumi, Riad, Kremer, Hubertus P.H., van de Warrenburg, Bart P., van den Akker, Willem M.R., Gilissen, Christian, Veltman, Joris A., Janssen, Irene M., Vulto-van Silfhout, Anneke T., van der Velde-Visser, Saskia, Lefeber, Dirk J., Diekstra, Adinda, Erasmus, Corrie E., Willemsen, Michèl A., Vissers, Lisenka E.L.M., Lammens, Martin, van Bokhoven, Hans, Brunner, Han G., Wevers, Ron A., Schenck, Annette, Al-Gazali, Lihadh, de Vries, Bert B.A., de Brouwer, Arjan P.M.

Volltext

Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort von Hendricks, Linda A.J., Hoogerbrugge, Nicoline, Venselaar, Hanka, Aretz, Stefan, Spier, Isabel, Legius, Eric, Brems, Hilde, de Putter, Robin, Claes, Kathleen B.M., Evans, D. Gareth, Woodward, Emma R., Genuardi, Maurizio, Brugnoletti, Fulvia, van Ierland, Yvette, Dijke, Kim, Tham, Emma, Tesi, Bianca, Schuurs-Hoeijmakers, Janneke H.M., Branchaud, Maud, Salvador, Hector, Jahn, Arne, Schnaiter, Simon, Anastasiadou, Violetta Christophidou, Brunet, Joan, Oliveira, Carla, Roht, Laura, Blatnik, Ana, Irmejs, Arvids, Duijkers, Floor, Giltay, Jacques C., van Hest, Liselotte P., Kleefstra, Tjitske, Leter, Edward M., Nielsen, Maartje, Nijmeijer, Sebastiaan W.R., Olderode-Berends, Maran J.W., Mensenkamp, Arjen R., Vos, Janet R.

Volltext

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study von Makrythanasis, P, van Bon, BW, Steehouwer, M, Rodríguez-Santiago, B, Simpson, M, Dias, P, Anderlid, BM, Arts, P, Bhat, M, Augello, B, Biamino, E, Bongers, EMHF, del Campo, M, Cordeiro, I, Cueto-González, AM, Cuscó, I, Deshpande, C, Frysira, E, Izatt, L, Flores, R, Galán, E, Gener, B, Gilissen, C, Granneman, SM, Hoyer, J, Yntema, HG, Kets, CM, Koolen, DA, Marcelis, CL, Medeira, A, Micale, L, Mohammed, S, de Munnik, SA, Nordgren, A, Psoni, S, Reardon, W, Revencu, N, Roscioli, T, Ruiterkamp-Versteeg, M, Santos, HG, Schoumans, J, Schuurs-Hoeijmakers, JHM, Silengo, MC, Toledo, L, Vendrell, T, van der Burgt, I, van Lier, B, Zweier, C, Reymond, A, Trembath, RC, Perez-Jurado, L, Dupont, J, de Vries, BBA, Brunner, HG, Veltman, JA, Merla, G, Antonarakis, SE, Hoischen, A

Volltext

Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis von Vorsteveld, Emil E., Van der Made, Caspar I., Smeekens, Sanne P., Schuurs-Hoeijmakers, Janneke H., Astuti, Galuh, Diepstra, Heleen, Gilissen, Christian, Hoenselaar, Evelien, Janssen, Alice, van Roozendaal, Kees, Engelen, Jettie Sikkema-van, Steyaert, Wouter, Weiss, Marjan M., Yntema, Helger G., Mantere, Tuomo, AlZahrani, Mofareh S., van Aerde, Koen, Derfalvi, Beata, Faqeih, Eissa Ali, Henriet, Stefanie S.V., van Hoof, Elise, Idressi, Eman, Issekutz, Thomas B., Jongmans, Marjolijn C.J., Keski-Filppula, Riikka, Krapels, Ingrid, te Loo, Maroeska, Mulders-Manders, Catharina M., ten Oever, Jaap, Potjewijd, Judith, Sarhan, Nora Tarig, Slot, Marjan C., Terhal, Paulien A., Thijs, Herman, Vandersteen, Anthony, Vanhoutte, Els K., van de Veerdonk, Frank, van Well, Gijs, Netea, Mihai G., Arts, Rob J.W., Bijker, Else M., Bruno, Mariolina, Hobo, Willemijn, Hoppenreijs, Esther, de Jonge, Marien I., van Laarhoven, Arjan, van der Molen, Renate, Oud, Manon, Schatorje, Ellen J.H., Smeets, Ruben, Sprenkeler, Evelien G.G., Stol, Kim, Verhagen, Lilly M., Zonneveld-Huijssoon, Evelien, Simons, Annet, Hoischen, Alexander

Volltext